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1
Whole genome sequencing identifies a homozygous nonsense mutation in the JPH2 gene in Shih Tzu dogs with progressive retinal atrophy
Whole genome sequencing identifies a homozygous nonsense mutation in the JPH2 gene in Shih Tzu dogs with progressive retinal atrophy
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Whole genome sequencing identifies a homozygous nonsense mutation in the JPH2 gene in Shih Tzu dogs with progressive retinal atrophy

Urkasemsin, G. ; Pongpanich, M. ; Sariya, L. ; Kongcharoen, A. ; Buddhirongawatr, R. ; Rungarunlert, S. ; Ferreira, J. N. ; Chetruengchai, W. ; Phokaew, C. ; Srichomthong, C. ; Shotelersuk, V.

Animal genetics, 2021-10, Vol.52 (5), p.714-719 [Periódico revisado por pares]

Oxford: Wiley Subscription Services, Inc

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2
Clinical and Molecular Characterization of Thai Patients with Wiskott–Aldrich Syndrome
Clinical and Molecular Characterization of Thai Patients with Wiskott–Aldrich Syndrome
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Clinical and Molecular Characterization of Thai Patients with Wiskott–Aldrich Syndrome

Amarinthnukrowh, P. ; Ittiporn, S. ; Tongkobpetch, S. ; Chatchatee, P. ; Sosothikul, D. ; Shotelersuk, V. ; Suphapeetiporn, K.

Scandinavian journal of immunology, 2013-01, Vol.77 (1), p.69-74 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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3
Association of CD247 with systemic lupus erythematosus in Asian populations
Association of CD247 with systemic lupus erythematosus in Asian populations
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Association of CD247 with systemic lupus erythematosus in Asian populations

Li, R ; Yang, W ; Zhang, J ; Hirankarn, N ; Pan, H-F ; Mok, CC ; Chan, TM ; Wong, RWS ; Mok, MY ; Lee, KW ; Wong, SN ; Leung, AMH ; Li, X-P ; Avihingsanon, Y ; Lee, TL ; Ho, MHK ; Lee, PPW ; Wong, WHS ; Wong, C-M ; Ng, IOL ; Yang, J ; Li, PH ; Zhang, Y ; Zhang, L ; Li, W ; Baum, L ; Kwan, P ; Rianthavorn, P ; Deekajorndej, T ; Suphapeetiporn, K ; Shotelersuk, V ; Garcia-Barceló, M-M ; Cherny, SS ; Tam, PK-H ; Sham, PC ; Lau, CS ; Shen, N ; Lau, YL ; Ye, D-Q

Lupus, 2012-01, Vol.21 (1), p.75-83 [Periódico revisado por pares]

London, England: SAGE Publications

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4
Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Hünermann-Happle syndrome
Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Hünermann-Happle syndrome
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Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Hünermann-Happle syndrome

Shotelersuk, V. ; Tongkobpetch, S.

Clinical and experimental dermatology, 2005-07, Vol.30 (4), p.419-421 [Periódico revisado por pares]

Oxford, UK: Blackwell Science Ltd

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5
De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome
De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome
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De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome

Shotelersuk, V. ; Janklat, S. ; Siriwan, P. ; Tongkobpetch, S.

Clinical and experimental dermatology, 2005-05, Vol.30 (3), p.282-285 [Periódico revisado por pares]

Oxford, UK: Blackwell Science Ltd

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6
Pulmonary Function and High-Resolution CT Findings in Patients With an Inherited Form of Pulmonary Fibrosis, Hermansky-Pudlak Syndrome, Due to Mutations in HPS-1
Pulmonary Function and High-Resolution CT Findings in Patients With an Inherited Form of Pulmonary Fibrosis, Hermansky-Pudlak Syndrome, Due to Mutations in HPS-1
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Pulmonary Function and High-Resolution CT Findings in Patients With an Inherited Form of Pulmonary Fibrosis, Hermansky-Pudlak Syndrome, Due to Mutations in HPS-1

Brantly, Mark ; Avila, Nilo A. ; Shotelersuk, Vorasuk ; Lucero, Cynthia ; Huizing, Marjan ; Gahl, William A.

Chest, 2000-01, Vol.117 (1), p.129-136 [Periódico revisado por pares]

Northbrook, IL: Elsevier Inc

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7
Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X Syndrome
Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X Syndrome
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Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X Syndrome

Winarni, Tri Indah ; Schneider, Andrea ; Borodyanskara, Mariya ; Hagerman, Randi J. Shotelersuk, V. ; Kubota, T.

Case reports in genetics, 2012-01, Vol.2012, p.280813-4 [Periódico revisado por pares]

United States: Hindawi Publishing Corporation

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8
Experimental dermatology times Concise report: Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Huenermann-Happle syndrome
Experimental dermatology times Concise report: Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Huenermann-Happle syndrome
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Experimental dermatology times Concise report: Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Huenermann-Happle syndrome

Shotelersuk, V ; Tongkobpetch, S

Clinical and experimental dermatology, 2005-07, Vol.30 (4), p.419-421 [Periódico revisado por pares]

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9
Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation
Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation
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Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation

Fredheim, Siri ; Svensson, Jannet ; Pørksen, Sven ; Hansen, Lars ; Hansen, Torben ; Pedersen, Oluf Borbye ; Mortensen, Henrik Bindesbøl ; Barbetti, Fabrizio ; Nielsen, Lotte Brøndum Chae, S.-C. ; Ishiguro, H. ; Shotelersuk, V.

Case reports in genetics, 2011-01, Vol.2011, p.258978-5 [Periódico revisado por pares]

United States: Hindawi Publishing Corporation

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10
Experimental dermatology times Concise report: De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome
Experimental dermatology times Concise report: De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome
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Experimental dermatology times Concise report: De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome

Shotelersuk, V ; Janklat, S ; Siriwan, P ; Tongkobpetch, S

Clinical and experimental dermatology, 2005-05, Vol.30 (3), p.282-285 [Periódico revisado por pares]

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